Canonical Allele Identifier: CA2322774215
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077488625
gnomAD v3: 19-11117937-T-TTG
gnomAD v4: 19-11117937-T-TTG
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11117939_11117940dup , CM000681.2:g.11117939_11117940dup GRCh38
NC_000019.9:g.11228615_11228616dup , CM000681.1:g.11228615_11228616dup GRCh37
NC_000019.8:g.11089615_11089616dup NCBI36
NG_009060.1:g.33559_33560dup , LRG_274:g.33559_33560dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+941_2103+942dup ENSP00000252444.6:n.2103+941_2103+942dup
ENST00000559340.2:c.1705+1727_1705+1728dup ENSP00000453696.2:n.1705+1727_1705+1728dup
ENST00000560467.2:c.1725+941_1725+942dup ENSP00000453513.2:n.1725+941_1725+942dup
ENST00000558518.6:c.1845+941_1845+942dup MANE Select ENSP00000454071.1:n.1845+941_1845+942dup
ENST00000252444.9:c.2099+941_2099+942dup
ENST00000455727.6:c.1341+941_1341+942dup ENSP00000397829.2:n.1341+941_1341+942dup
ENST00000535915.5:c.1722+941_1722+942dup ENSP00000440520.1:n.1722+941_1722+942dup
ENST00000545707.5:c.1464+941_1464+942dup ENSP00000437639.1:n.1464+941_1464+942dup
ENST00000557933.5:c.1845+941_1845+942dup ENSP00000453557.1:n.1845+941_1845+942dup
ENST00000558013.5:c.1845+941_1845+942dup ENSP00000453346.1:n.1845+941_1845+942dup
ENST00000558518.5:c.1845+941_1845+942dup ENSP00000454071.1:n.1845+941_1845+942dup
ENST00000559340.1:c.426+1727_426+1728dup
NM_000527.4:c.1845+941_1845+942dup , LRG_274t1:c.1845+941_1845+942dup NP_000518.1:n.1845+941_1845+942dup
NM_001195798.1:c.1845+941_1845+942dup NP_001182727.1:n.1845+941_1845+942dup
NM_001195799.1:c.1722+941_1722+942dup NP_001182728.1:n.1722+941_1722+942dup
NM_001195800.1:c.1341+941_1341+942dup NP_001182729.1:n.1341+941_1341+942dup
NM_001195803.1:c.1464+941_1464+942dup NP_001182732.1:n.1464+941_1464+942dup
XM_011528010.1:c.1845+941_1845+942dup XP_011526312.1:n.1845+941_1845+942dup
XM_011528011.1:c.1464+941_1464+942dup XP_011526313.1:n.1464+941_1464+942dup
XR_244074.2:n.1855+1727_1855+1728dup
XM_011528010.2:c.1845+941_1845+942dup XP_011526312.1:n.1845+941_1845+942dup
XR_001753685.2:n.1962+941_1962+942dup
XR_001753686.2:n.1822+1727_1822+1728dup
NM_000527.5:c.1845+941_1845+942dup MANE Select NP_000518.1:n.1845+941_1845+942dup
NM_001195798.2:c.1845+941_1845+942dup NP_001182727.1:n.1845+941_1845+942dup
NM_001195799.2:c.1722+941_1722+942dup NP_001182728.1:n.1722+941_1722+942dup
NM_001195800.2:c.1341+941_1341+942dup NP_001182729.1:n.1341+941_1341+942dup
NM_001195803.2:c.1464+941_1464+942dup NP_001182732.1:n.1464+941_1464+942dup
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